rs680

This variant is located in the IGF2 gene.

▶

Research that mentions this SNP (1)

▶
Haplotype analysis of the IGF2‐INS‐TH gene cluster in Parkinson's disease
ReviewGreg Sutherland et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This minireview summarizes associations between forensic STR (short tandem repeat) markers and various diseases including cancer, schizophrenia, hypertension, Down syndrome, Edwards syndrome, and cardiovascular disorders. The paper reviews numerous studies demonstrating that specific STR alleles (e.g., THO1 allele 9.3 with hypertension and SIDS, D13S317 and D5S818 with schizophrenia) show significant associations with disease susceptibility, supporting the use of STR markers for early diagnosis and genetic screening.

Traits studied:Bipolar disorderCancer (various types: chronic myeloid leukemia, lung, liver, gastric, papillary thyroid, esophageal)Down syndrome (Trisomy-21)Edwards syndrome (Trisomy-18)Essential hypertensionFacial characteristicsLongevityMalaria susceptibilityNicotine dependenceParkinson diseaseSchizophreniaSudden infant death syndrome (SIDS)Venous thromboembolism
PubMedDOIMetascience Observatory

About IGF2

This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

View all IGF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…